Allele Registry

Canonical Allele Identifier: PA262601

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042603

ClinVar Variation:

49343

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1684Pro	CA021580 NM_000548.5:c.5050T>C